PORTLAND, Ore. (KOIN) – As Feb. 28 marks Rare Disease Day, one mother is sharing her mission to get answers and find a treatment for her son’s rare brain disorder.
Rare Disease Day is an international event to raise awareness among the general public and lawmakers about rare diseases and their impact on families, said Sandra Sermone, Founder and Principal Investigator of ADNP Kids Research Foundation – based in Brush Prairie, Washington.
Sermone started ADNP Kids Research Foundation to advocate for her son who was diagnosed with ADNP Syndrome in 2014 — the first diagnosis in the United States and the eleventh in the world.
ADNP, Helsmoortel-VanDerAa Syndrome, is a pediatric neurodevelopmental disorder caused by deletion to the ADNP gene – which can result in a range of symptoms and severity, according to ADNP Kids Research Foundation.
Sermone founded the organization because at the time of her son’s diagnosis, there were no treatments or cures.
According to Sermone, there are over 10,000 rare diseases, 5% of which have treatments.
“It’s a sad fact in the rare disease base, little funding exists. So, parents like myself have to go out and kind of take care of things ourselves,” Sermone said. “Parents have to become scientists and drug developers and start biotech companies.”
She added “your son is diagnosed with an incurable disease, it becomes your responsibility to find a cure and treatment.”
Sermone has raised about $2 million in the last five years through her non-profit and speaks to lawmakers about funding rare disease research for the National Institute of Health and the Food and Drug Administration.
She noted that it’s important for lawmakers to recognize that parents are advocating for their kids and need support.
“It’s important for them to know that parents are the ones doing this and it shouldn’t be the way it works.”